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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:corpus callosum agenesis-abnormal genitalia syndrome
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Accession:DOID:0112151 term browser browse the term
Definition:A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)
Synonyms:exact_synonym: ACC with abnormal genitalia;   ACC-abnormal genitalia syndrome;   Proud syndrome;   Proud-Levine-Carpenter syndrome;   agenesis of corpus callosum with abnormal genitalia;   corpus callosum agenesis with abnormal genitalia;   microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
 primary_id: MESH:C563110
 alt_id: OMIM:300004
 xref: GARD:4528;   ORDO:2508


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corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      corpus callosum agenesis-abnormal genitalia syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              developmental disorder of mental health 5493
                specific developmental disorder 4448
                  intellectual disability 4253
                    corpus callosum agenesis-abnormal genitalia syndrome 1
paths to the root